| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ROU
|
0
|
3
|
No
|
Delayed motor development
Dystonia, segmental/multifocal Decreased body weight Short stature Developmental regression Bradykinesia Lower limb dystonia Dystonia/Parkinsonism Developmental delay Hypotonia Tremor (any or unspecified) Cognitive impairment Parkinsonism Myoclonus Rigidity Upper limb dystonia Dystonia (any or unspecified) Intellectual developmental disorder Postural instability Dystonia, limb Tremor, action Show more (+18) |
Developmental delay
Myoclonus |